Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666533 | SCV000790838 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-04-12 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002254304 | SCV002522688 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs1554948445) in MODY yet. | |
Clinical Genomics, |
RCV002273822 | SCV002522689 | uncertain significance | Transitory neonatal diabetes mellitus | criteria provided, single submitter | research | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs1554948445) in neonatal diabetes yet. | |
Baylor Genetics | RCV004568501 | SCV005053802 | pathogenic | Type 2 diabetes mellitus | 2023-11-18 | criteria provided, single submitter | clinical testing |